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鳃裂 -耳 -肾综合征 (Ｂｒａｎｃｈｉｏ -ｏｔｏ -ｒｅｎａｌｓｙｎｄｒｏｍｅ,ＢＯＲ)系因第一、二鳃弓发育异常、听力障碍、泌尿系统畸形而得名。ＢＯＲ是一种罕见的常染色体显性遗传疾病 ,发病率为 1:40 0 0 0 ,在深度聋儿中占 2 % [1] 。 1975年Ｍｅｌｎｉｃｋ首次报道一家
Branchio-oto-renal syndrome (Branchio-oto -renal syndrome, BOR) Department of the first and second branchial gonadal dysplasia, hearing disorders, urinary system deformity named. BOR is a rare autosomal dominant genetic disease with a prevalence of 1:40 000 and 2% of deaf children [1]. Melnick first reported in 1975